Literature DB >> 5516239

Amish albinism: a distinctive autosomal recessive phenotype.

W E Nance, C E Jackson, C J Witkop.   

Abstract

Mesh：

Year:  1970        PMID： 5516239      PMCID： PMC1706616     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  Tyrosinase activity in melanocytes of human albinos.

Authors:  T P KUGELMAN; E J VAN SCOTT
Journal:  J Invest Dermatol       Date:  1961-07       Impact factor: 8.551

2.  The free amino acids of human blood plasma.

Authors:  W H STEIN; S MOORE
Journal:  J Biol Chem       Date:  1954-12       Impact factor: 5.157

3.  Marriage of two complete albinos with normally pigmented offspring.

Authors:  P D TREVOR-ROPER
Journal:  Br J Ophthalmol       Date:  1952-02       Impact factor: 4.638

4.  A new oculocerebral syndrome with hypopigmentation.

Authors:  H E Cross; V A McKusick; W Breen
Journal:  J Pediatr       Date:  1967-03       Impact factor: 4.406

5.  Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.

Authors:  C E Jackson; D A Strehler
Journal:  Pediatrics       Date:  1968-02       Impact factor: 7.124

6.  Consanguinity and blood group distribution in an Amish Isolate.

Authors:  C E Jackson; W E Symon; E L Pruden; I M Kaehr; J D Mann
Journal:  Am J Hum Genet       Date:  1968-11       Impact factor: 11.025

7.  Genetic linkage analysis of human hemoglobin variants.

Authors:  W E Nance; M Conneally; K W Kang; T Reed; J Schroder; S Rose
Journal:  Am J Hum Genet       Date:  1970-07       Impact factor: 11.025

8.  Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity.

Authors:  C J Witkop; W E Nance; R F Rawls; J G White
Journal:  Am J Hum Genet       Date:  1970-01       Impact factor: 11.025

9.  Evidence for linkage between haemoglobin and chromogen loci.

Authors:  R Brdicka
Journal:  Folia Biol (Praha)       Date:  1966       Impact factor: 0.906

10.  Induction of melanin synthesis in albino mouse skin by DNA from pigmented mice.

Authors:  E Ottolenghi-Nightingale
Journal:  Proc Natl Acad Sci U S A       Date:  1969-09       Impact factor: 11.205
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  8 in total

Review 1.  Oculocutaneous albinism.

Authors:  S Biswas; I C Lloyd
Journal:  Arch Dis Child       Date:  1999-06       Impact factor: 3.791

2.  Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.

Authors:  W S Oetting; M M Mentink; C G Summers; R A Lewis; J G White; R A King
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

Review 3.  Albinism: modern molecular diagnosis.

Authors:  S M Carden; R E Boissy; P J Schoettker; W V Good
Journal:  Br J Ophthalmol       Date:  1998-02       Impact factor: 4.638

4.  1992 American Society of Human Genetics presidential address: back to the future.

Authors:  W E Nance
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

5.  Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

Authors:  F Hu; J M Hanifin; G H Prescott; A C Tongue
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

6.  Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.

Authors:  L B Giebel; R K Tripathi; K M Strunk; J M Hanifin; C E Jackson; R A King; R A Spritz
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

7.  Concurrence of anorexia nervosa and yellow mutant albinism.

Authors:  J T Kelly; J Rohde; C J Witkop; A Johannes
Journal:  J Med Genet       Date:  1980-02       Impact factor: 6.318

8.  Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism.

Authors:  W S Oetting; R A King
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132
  8 in total

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